Variant report

Variant	rs1805807
Chromosome Location	chr8:91019047-91019048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:91018716-91019190	K562	blood:	n/a	n/a
2	POLR2A	chr8:91019029-91019087	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91012916..91015532-chr8:91016976..91019163,4	K562	blood:
2	chr8:91016481..91019330-chr8:91020288..91024587,4	MCF-7	breast:
3	chr8:91017661..91019638-chr8:91023682..91026247,2	K562	blood:
4	chr8:91018959..91021069-chr8:91131778..91133318,2	K562	blood:
5	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:
6	chr8:91010711..91015173-chr8:91016537..91023019,10	MCF-7	breast:
7	chr8:91017521..91019447-chr8:91254781..91258818,3	MCF-7	breast:
8	chr8:91009932..91012698-chr8:91017026..91019725,2	K562	blood:

No data

Variant related genes	Relation type
NBN	TF binding region
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10109454	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1011682	0.83[EUR][1000 genomes]
rs1011683	0.84[EUR][1000 genomes]
rs10956427	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476590	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16786	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805788	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805793	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805796	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805801	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805802	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805806	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805808	0.85[EUR][1000 genomes]
rs1805809	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805833	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805841	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805864	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805868	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805869	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805871	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805889	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072656	0.84[EUR][1000 genomes]
rs2074593	0.83[EUR][1000 genomes]
rs2097825	0.82[EUR][1000 genomes]
rs2107466	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2189618	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2189619	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293775	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087750	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34394839	0.84[EUR][1000 genomes]
rs4961165	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961166	0.81[EUR][1000 genomes]
rs4961167	0.83[EUR][1000 genomes]
rs4961169	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6993054	0.84[EUR][1000 genomes]
rs7010210	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011299	0.83[EUR][1000 genomes]
rs709816	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7822272	0.84[EUR][1000 genomes]
rs7822950	0.83[EUR][1000 genomes]
rs867185	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs926092	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8365	chr8:91014360-91019600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1805807	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91021200	Weak transcription	Gastric	stomach
2	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:91014800-91022200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:91014800-91022400	Weak transcription	Ovary	ovary
6	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
8	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
9	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
12	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
15	chr8:91015000-91019600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:91015000-91021600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:91015000-91024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:91015200-91022000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:91015200-91025000	Weak transcription	NHLF	lung
22	chr8:91015400-91024800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:91015400-91031200	Weak transcription	HSMMtube	muscle
24	chr8:91015400-91031400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:91015400-91031400	Weak transcription	Brain Substantia Nigra	brain
26	chr8:91015400-91031400	Weak transcription	Fetal Kidney	kidney
27	chr8:91015600-91020400	Weak transcription	HepG2	liver
28	chr8:91015600-91021600	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:91015600-91021800	Weak transcription	NH-A	brain
30	chr8:91015600-91031200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
32	chr8:91015800-91022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:91015800-91022000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:91015800-91029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:91015800-91031200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:91015800-91033200	Weak transcription	Stomach Mucosa	stomach
39	chr8:91016000-91024800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:91016200-91021000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:91016200-91021200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:91016200-91024800	Weak transcription	NHDF-Ad	bronchial
43	chr8:91016800-91019600	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:91017000-91023600	Enhancers	Liver	Liver
45	chr8:91017200-91019200	Strong transcription	Fetal Muscle Leg	muscle
46	chr8:91017200-91019400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:91017200-91019400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr8:91017200-91019800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr8:91017200-91019800	Enhancers	Right Atrium	heart
50	chr8:91017400-91019200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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